Molecular Vision 2009-01-01

Identification of a novel CRYAB mutation associated with autosomal recessive juvenile cataract in a Saudi family.

L Abu Safieh, A O Khan, F S Alkuraya

文献索引：Mol. Vis. 15 , 980-4, (2009)

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摘要

To describe the first cataract-causing recessive mutation in the crystalline, alpha-b gene CRYAB.Homozygosity mapping complemented by linkage analysis was performed in a family with autosomal recessive juvenile cataract.A homozygous missense mutation in CRYAB was identified. The mutation replaces a highly conserved amino acid residue in a dual function domain of the protein. None of the patients has clinically significant myopathy, but the oldest patient (the mother) has retinal pathology.This is the first report of a recessive mutation in CRYAB causing cataract. Based on recent knowledge of the structure and function of this small heat shock protein, we speculate on the potential mutational mechanism.